nsv3917463
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,561,803
- Description:GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10211 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 10050 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 2552 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917463 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 68,031,693 | 71,593,495 |
| nsv3917463 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,799,160 | 71,304,541 |
| nsv3917463 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 67,555,736 | 70,982,189 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146009 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000142138.7, VCV000153941.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146009 | Submitted genomic | NC_000011.10:g.(?_ 68031693)_(7159349 5_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 68,031,693 | 71,593,495 |
| nssv15146009 | Submitted genomic | NC_000011.9:g.(?_6 7799160)_(71304541 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,799,160 | 71,304,541 |
| nssv15146009 | Submitted genomic | NC_000011.8:g.(?_6 7555736)_(70982189 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 67,555,736 | 70,982,189 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146009 | GRCh37: NC_000011.9:g.(?_67799160)_(71304541_?)del, GRCh38: NC_000011.10:g.(?_68031693)_(71593495_?)del, NCBI36: NC_000011.8:g.(?_67555736)_(70982189_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000142138.7, VCV000153941.2 | 1 |